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ONTOLOGY REPORT - ANNOTATIONS


Term:IMMUNODEFICIENCY 31C
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Accession:DOID:9001288 term browser browse the term
Definition:IMD31C is a disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG)-mediated inflammation. (OMIM)
Synonyms:exact_synonym: CANDF7;   CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT;   CANDIDIASIS, FAMILIAL, 7;   IMD31C
 primary_id: OMIM:614162;   RDO:9000207
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IMMUNODEFICIENCY 31C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:7240710
RGD:8554872

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Path 1
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  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        IMMUNODEFICIENCY 31C 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Infectious Skin Diseases 142
              dermatomycosis 43
                chronic mucocutaneous candidiasis 8
                  IMMUNODEFICIENCY 31C 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.